The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and i... See more...

Aliases for NUP88 Gene

Aliases for NUP88 Gene

  • Nucleoporin 88 2 3 5
  • Nuclear Pore Complex Protein Nup88 3 4
  • Nucleoporin Nup88 3 4
  • Nucleoporin 88kDa 2 3
  • Nuclear Pore Complex Protein 88 3
  • 88 KDa Nucleoporin 4
  • Nucleoporin 88kD 2
  • Karyoporin 3
  • FADS4 3

External Ids for NUP88 Gene

Previous GeneCards Identifiers for NUP88 Gene

  • GC17M005674
  • GC17M005233
  • GC17M005489
  • GC17M005230
  • GC17M005180
  • GC17M005361
  • GC17M005363

Summaries for NUP88 Gene

Entrez Gene Summary for NUP88 Gene

  • The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

GeneCards Summary for NUP88 Gene

NUP88 (Nucleoporin 88) is a Protein Coding gene. Diseases associated with NUP88 include Fetal Akinesia Deformation Sequence 4 and Fetal Akinesia Deformation Sequence 1. Among its related pathways are Metabolism of proteins and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include transporter activity.

UniProtKB/Swiss-Prot Summary for NUP88 Gene

Gene Wiki entry for NUP88 Gene

Additional gene information for NUP88 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP88 Gene

Genomics for NUP88 Gene

GeneHancer (GH) Regulatory Elements for NUP88 Gene

Promoters and enhancers for NUP88 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUP88 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP88

Top Transcription factor binding sites by QIAGEN in the NUP88 gene promoter:
  • AhR
  • Arnt
  • CUTL1
  • FOXF2
  • HEN1
  • Pax-3
  • POU2F1
  • POU2F1a
  • SRF
  • SRF (504 AA)

Genomic Locations for NUP88 Gene

Genomic Locations for NUP88 Gene
chr17:5,360,963-5,419,739
(GRCh38/hg38)
Size:
58,777 bases
Orientation:
Minus strand
chr17:5,264,258-5,323,480
(GRCh37/hg19)
Size:
59,223 bases
Orientation:
Minus strand

Genomic View for NUP88 Gene

Genes around NUP88 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP88 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP88 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP88 Gene

Proteins for NUP88 Gene

  • Protein details for NUP88 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99567-NUP88_HUMAN
    Recommended name:
    Nuclear pore complex protein Nup88
    Protein Accession:
    Q99567
    Secondary Accessions:
    • D3DTM2
    • Q9BWE5

    Protein attributes for NUP88 Gene

    Size:
    741 amino acids
    Molecular mass:
    83542 Da
    Quaternary structure:
    • Interacts with NUP214/CAN (PubMed:9049309, PubMed:30543681). Interacts with NUP62 and NUP98 (PubMed:30543681).

neXtProt entry for NUP88 Gene

Post-translational modifications for NUP88 Gene

  • Ubiquitination at Lys150, Lys226, Lys531, and Lys552
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NUP88 Gene

Domains & Families for NUP88 Gene

Gene Families for NUP88 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for NUP88 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NUP88 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58372, highly similar to Nuclear pore complex protein Nup88 (B4DP20_HUMAN)
  • Nucleoporin Nup88 (NUP88_HUMAN)
genes like me logo Genes that share domains with NUP88: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NUP88 Gene

Function for NUP88 Gene

Molecular function for NUP88 Gene

UniProtKB/Swiss-Prot Function:
Component of nuclear pore complex.
GENATLAS Biochemistry:
CAN/NUP214 interacting protein 88

Phenotypes From GWAS Catalog for NUP88 Gene

Gene Ontology (GO) - Molecular Function for NUP88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 9049309
GO:0005515 protein binding IPI 28514442
GO:0017056 structural constituent of nuclear pore IEA --
genes like me logo Genes that share ontologies with NUP88: view
genes like me logo Genes that share phenotypes with NUP88: view

Human Phenotype Ontology for NUP88 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP88

Clone Products

  • Addgene plasmids for NUP88

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NUP88 Gene

Localization for NUP88 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP88 Gene

Nucleus, nuclear pore complex.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUP88 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NUP88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005643 nuclear pore TAS,IDA 23777819
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NUP88: view

Pathways & Interactions for NUP88 Gene

PathCards logo

SuperPathways for NUP88 Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with NUP88: view

Pathways by source for NUP88 Gene

1 Cell Signaling Technology pathway for NUP88 Gene

Gene Ontology (GO) - Biological Process for NUP88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000055 ribosomal large subunit export from nucleus IBA 21873635
GO:0000056 ribosomal small subunit export from nucleus IBA,IEA 21873635
GO:0000278 mitotic cell cycle IEA --
GO:0006110 regulation of glycolytic process TAS --
GO:0006406 mRNA export from nucleus TAS,IBA --
genes like me logo Genes that share ontologies with NUP88: view

No data available for SIGNOR curated interactions for NUP88 Gene

Drugs & Compounds for NUP88 Gene

(1) Additional Compounds for NUP88 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NUP88: view

Transcripts for NUP88 Gene

mRNA/cDNA for NUP88 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP88

Clone Products

  • Addgene plasmids for NUP88

Alternative Splicing Database (ASD) splice patterns (SP) for NUP88 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: - - - -
SP2: - -
SP3: - -
SP4: -
SP5:
SP6: - - - -
SP7:
SP8: -

Relevant External Links for NUP88 Gene

GeneLoc Exon Structure for
NUP88

Expression for NUP88 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP88 Gene

Protein differential expression in normal tissues from HIPED for NUP88 Gene

This gene is overexpressed in Lymph node (10.5), Peripheral blood mononuclear cells (8.2), and CD8 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP88 Gene



Protein tissue co-expression partners for NUP88 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP88

SOURCE GeneReport for Unigene cluster for NUP88 Gene:

Hs.584784

mRNA Expression by UniProt/SwissProt for NUP88 Gene:

Q99567-NUP88_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for NUP88 Gene

  • Liver(4.3)
  • Lung(4.3)
  • Nervous system(4.3)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with NUP88: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP88 Gene

Orthologs for NUP88 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUP88 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUP88 31 30
  • 99.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NUP88 31 30
  • 90.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nup88 17 31 30
  • 87.07 (n)
rat
(Rattus norvegicus)
Mammalia Nup88 30
  • 86.22 (n)
dog
(Canis familiaris)
Mammalia NUP88 31 30
  • 82.09 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NUP88 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUP88 31 30
  • 72.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUP88 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nup88 30
  • 65.66 (n)
Str.10700 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24356 30
zebrafish
(Danio rerio)
Actinopterygii nup88 31 30
  • 63.44 (n)
OneToOne
-- 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001179 30
  • 43.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta mbo 31 32 30
  • 41.88 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToOne
Species where no ortholog for NUP88 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NUP88 Gene

ENSEMBL:
Gene Tree for NUP88 (if available)
TreeFam:
Gene Tree for NUP88 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUP88: view image

Paralogs for NUP88 Gene

(14) SIMAP similar genes for NUP88 Gene using alignment to 5 proteins:

  • NUP88_HUMAN
  • I3L245_HUMAN
  • I3L2W3_HUMAN
  • I3L4K7_HUMAN
  • J3KMX1_HUMAN
genes like me logo Genes that share paralogs with NUP88: view

No data available for Paralogs for NUP88 Gene

Variants for NUP88 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP88 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1567568217 Pathogenic: FETAL AKINESIA DEFORMATION SEQUENCE 4 5,394,973(-) C/A MISSENSE_VARIANT
rs774070092 Pathogenic: FETAL AKINESIA DEFORMATION SEQUENCE 4 5,388,920(-) G/A NONSENSE
rs776532930 Pathogenic: FETAL AKINESIA DEFORMATION SEQUENCE 4 5,387,400(-) CTCT/C INFRAME_DELETION
VAR_082159 Fetal akinesia deformation sequence 4 (FADS4) [MIM:618393] p.Asp434Tyr
rs1806245 - p.Asn289Ser

Additional dbSNP identifiers (rs#s) for NUP88 Gene

Structural Variations from Database of Genomic Variants (DGV) for NUP88 Gene

Variant ID Type Subtype PubMed ID
esv3582500 CNV loss 25503493
nsv574273 CNV gain 21841781
nsv819032 CNV loss 19587683
nsv819549 CNV loss 19587683

Variation tolerance for NUP88 Gene

Residual Variation Intolerance Score: 12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUP88 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP88

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP88 Gene

Disorders for NUP88 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NUP88 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NUP88 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NUP88_HUMAN
  • Fetal akinesia deformation sequence 4 (FADS4) [MIM:618393]: A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS4 inheritance is autosomal recessive. {ECO:0000269 PubMed:30543681}. Note=The disease is caused by mutations affecting the gene represented in this entry. Disease mechanism likely includes impaired formation of the neuromuscular junction. NUP88 silencing in vitro results in reduced levels of rapsyn, a key player in clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. Decreased rapsyn levels have also been observed in a patient muscle biopsy. {ECO:0000269 PubMed:30543681}.

Additional Disease Information for NUP88

genes like me logo Genes that share disorders with NUP88: view

No data available for Genatlas for NUP88 Gene

Publications for NUP88 Gene

  1. The human homologue of yeast CRM1 is in a dynamic subcomplex with CAN/Nup214 and a novel nuclear pore component Nup88. (PMID: 9049309) Fornerod M … Grosveld G (The EMBO journal 1997) 2 3 4 54
  2. Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. (PMID: 30543681) Bonnin E … Fahrenkrog B (PLoS genetics 2018) 3 4 54
  3. Nuclear pore complex component MOS7/Nup88 is required for innate immunity and nuclear accumulation of defense regulators in Arabidopsis. (PMID: 19700630) Cheng YT … Li X (The Plant cell 2009) 3 23 54
  4. Oxidative stress mislocalizes and retains transport factor importin-alpha and nucleoporins Nup153 and Nup88 in nuclei where they generate high molecular mass complexes. (PMID: 18068677) Kodiha M … Stochaj U (Biochimica et biophysica acta 2008) 3 23 54
  5. Nucleoporin 88 (Nup88) is regulated by hypertonic stress in kidney cells to retain the transcription factor tonicity enhancer-binding protein (TonEBP) in the nucleus. (PMID: 18606815) Andres-Hernando A … Berl T (The Journal of biological chemistry 2008) 3 23 54

Products for NUP88 Gene

Sources for NUP88 Gene